BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group

• Published in: The journal of obstetrics and gynaecology research Vol. 45; no. 11; pp. 2267 - 2274
• Main Authors: Bu, Hualei, Chen, Jingying, Li, Qingshui, Hou, Jianqing, Wei, Yuan, Yang, Xiaohang, Ma, Yana, He, Hongsheng, Zhang, Youzhong, Kong, Beihua
• Format: Journal Article
• Language: English
• Published: Kyoto, Japan John Wiley & Sons Australia, Ltd 01.11.2019; Wiley Subscription Services, Inc
• Subjects: Adult; Aged; Ascites; Asian Continental Ancestry Group - genetics; BRCA; BRCA1 protein; BRCA1 Protein - genetics; BRCA2 protein; BRCA2 Protein - genetics; Breast cancer; CA-125 Antigen - analysis; China - epidemiology; Chinese ovarian cancer patient; Doxorubicin; Family medical history; Female; FIGO stage; Genetic counseling; Gynecology; Health risk assessment; Humans; Liposomes; Malignancy; Middle Aged; Mutation; Mutation Rate; Obstetrics; Ovarian cancer; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Patients; Platinum; platinum sensitivity; Prevalence; Survival; China; BRCA; platinum sensitivity; Chinese ovarian cancer patient; FIGO stage; survival
• ISSN: 1341-8076; 1447-0756
• DOI: 10.1111/jog.14090

Aim Subjects with germline BRCA1/2 mutations (gBRCAm) have an increased risk of developing breast cancer and ovarian cancer. At present, knowledge of BRCA1/2 mutation frequency in Chinese patients with ovarian cancer is still insufficient, and the detailed clinical information of these patients is poorly understood. Methods A total of 547 unselected ovarian cancer patients were enrolled, and their gBRCAm status was detected. Clinical characteristics including age, personal and family history, histopathologic diagnosis, carbohydrate antigen 125 (CA‐125) level, ascites, Federation International of Gynecology and Obstetrics (FIGO) stage, residual lesions, platinum sensitivity, recurrence interval and survival information were collected. Accurate assessments of disease response were based on the RECIST standard or CA‐125 level. Results In 547 patients with ovarian cancer, we detected 129 (23.6%) patients with pathogenic mutations, 84 patients with BRCA1 mutations (15.4%) and 45 patients with BRCA2 mutations (8.2%). Twenty‐five novel mutations were identified, and the mutation of BRCA1, c.5470_5477del8, was the most common mutation in this study. BRCA1/2 mutations were significantly associated with age; personal and family history; FIGO stage; secondary recurrence interval; sensitivity to platinum in 1st, 2nd and 3rd line treatment; and response to doxorubicin liposomes. Patients with BRCA1/2 mutations showed significant advantages in 3‐ and 5‐year survival rates but no advantage in long‐term survival. Conclusion BRCA1/2 mutation prevalence in Chinese ovarian cancer patients is higher than the international rate. We recommend BRCA1/2 testing for patients with family histories and personal histories of malignancy and genetic counseling for cancer in healthy people with high‐risk family histories.